methylmalonic acidemia

نتایج جستجو برای: methylmalonic acidemia

تعداد نتایج: 2180 فیلتر نتایج به سال:

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Journal: :Orphanet Journal of Rare Diseases 2019

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders

2017

Péter Monostori Glynis Klinke Sylvia Richter Ákos Baráth Ralph Fingerhut Matthias R Baumgartner Stefan Kölker Georg F Hoffmann Gwendolyn Gramer Jürgen G Okun

BACKGROUND AND AIMS Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to de...

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Studies on the beneficial effect of levocarnitine chloride(LC-80) on organic acidemias, especially propionic acidemia and methylmalonic acidemia.

Journal: :Folia Pharmacologica Japonica 1989

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